CALL FOR PAPERS Mitochondria in Cardiovascular Physiology and Disease Cardiac-specific VLCAD deficiency induces dilated cardiomyopathy and cold intolerance
نویسندگان
چکیده
Dingding Xiong,* Huamei He,* Jeanne James, Chonan Tokunaga, Corey Powers, Yan Huang, Hanna Osinska, Jeffrey A. Towbin, Enkhsaikhan Purevjav, James A. Balschi, Sabzali Javadov, Francis X. McGowan, Jr., Arnold W. Strauss, and Zaza Khuchua Heart Institute of Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio; Department of Anesthesiology and Critical Care Medicine, Children’s Hospital of Philadelphia and University of Pennsylvania, Philadelphia, Pennsylvania; Physiological NMR Core Laboratory, Department of Medicine, Brigham and Women’s Hospital, Harvard Medical School, Boston, Massachusetts; and Department of Physiology, School of Medicine, University of Puerto Rico, San Juan, Puerto Rico
منابع مشابه
Cardiac-specific VLCAD deficiency induces dilated cardiomyopathy and cold intolerance.
The very long-chain acyl-CoA dehydrogenase (VLCAD) enzyme catalyzes the first step of mitochondrial β-oxidation. Patients with VLCAD deficiency present with hypoketotic hypoglycemia and cardiomyopathy, which can be exacerbated by fasting and/or cold stress. Global VLCAD knockout mice recapitulate these phenotypes: mice develop cardiomyopathy, and cold exposure leads to rapid hypothermia and dea...
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Mitochondrial very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is associated with severe hypoglycemia, cardiac dysfunction, and sudden death in neonates and children. Sudden death is common, but the underlying mechanisms are not fully understood. We report on a mouse model of VLCAD deficiency with a phenotype induced by the stresses of fasting and cold, which includes hypoglycemia, hyp...
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